【摘要】 目的研究冠心病新致病基因MEF2A在中国人群突变情况。方法利用聚合酶链反应-单链构象多态性(polym erase chain reaction-single strand conform ation polymorph ism,PCR-SSCP)和DNA测序技术对156例冠心病(CAD)患者第1外显子及第8外显子进行基因突变检测。结果MEF2A基因第1外显子区域6例患者SSCP泳动异常,第8外显子区域7例患者SSCP泳动异常,但DNA直接测序未发现MEF2A基因第1、8外显子区域基因突变。结论冠心病患者在MEF2A基因第1、8外显子未发现新的突变,PCR-SSCP结果与DNA测序结果并非平行关系,SSCP同样存在假阳性。更多还原

【Abstract】 Objective: To explore the mutation of MEF2A gene exon 1 and 8 in Chinese patients with coronary artery disease(CAD).Methods: Mutation analysis of exon 1 and 8 of MEF2A gene was performed by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and DNA direct sequencing in patients with CAD.Results:Mobility shift of SSCP in exon 1 and exon 8 of MEF2A gene was detected in 6 cases and in 7 cases respectly.But no mutation was found in the patients by DNA sequence analysis.Conclusion:No mutation in exon 1 and exon 8 of MEF2A gene was found in the patients with CAD.更多还原